PMC Articles for MedGen (Select 9799) - PMC

Maria Felicia Faienza, Albina Tummolo, Mauro Celli, Roberto Finocchiaro, Laura Piacente, Francesca Di Serio, Grazia Paola Nicchia, Giacomina Brunetti, Patrizia D’Eufemia

Biomedicines. 2023 Feb; 11(2): 458. Published online 2023 Feb 4. doi: 10.3390/biomedicines11020458

PMCID:: PMC9953364

Abstract Article PDF–1.8M

Select item 94823895.

Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I

Zhijie Niu, Yongjing Lai, Wenwen Zhou, Lingyuan Liu, Songhua Tan, Guangyao He, Jingyu Li, Fen Tang, Yupei Su, Yanglong Xu, Lei Liu, Lihong Xie, Qin Fang, Anzhou Tang

Mol Genet Genomic Med. 2022 Sep; 10(9): e2019. Published online 2022 Jul 19. doi: 10.1002/mgg3.2019

PMCID:: PMC9482389

Abstract Article PDF–2.1M

Select item 83089676.

The Stimulating Effect of Rosmarinic Acid and Extracts from Rosemary and Lemon Balm on Collagen Type I Biosynthesis in Osteogenesis Imperfecta Type I Skin Fibroblasts

Joanna Sutkowska, Natalia Hupert, Katarzyna Gawron, Jakub W. Strawa, Michał Tomczyk, Antonella Forlino, Anna Galicka

Pharmaceutics. 2021 Jul; 13(7): 938. Published online 2021 Jun 23. doi: 10.3390/pharmaceutics13070938

PMCID:: PMC8308967

Abstract Article PDF–3.9M

Select item 81235047.

Increased Osteocyte Lacunae Density in the Hypermineralized Bone Matrix of Children with Osteogenesis Imperfecta Type I

Matthias Mähr, Stéphane Blouin, Martina Behanova, Barbara M. Misof, Francis H. Glorieux, Jochen Zwerina, Frank Rauch, Markus A. Hartmann, Nadja Fratzl-Zelman

Int J Mol Sci. 2021 May; 22(9): 4508. Published online 2021 Apr 26. doi: 10.3390/ijms22094508

PMCID:: PMC8123504

Abstract Article PDF–3.7M

Select item 80389058.

The Anesthetic Management of a Parturient With Osteogenesis Imperfecta Type I Undergoing Cesarean Delivery

Manshu Yan, Nicholas P Knowland, Donna Lien

Cureus. 2021 Mar; 13(3): e13849. Published online 2021 Mar 12. doi: 10.7759/cureus.13849

PMCID:: PMC8038905

Abstract Article PDF–371K

Select item 75073049.

A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family

Yaxin Han, Dongming Wang, Jinli Guo, Qiuhong Xiong, Ping Li, Yong‐An Zhou, Bin Zhao

Mol Genet Genomic Med. 2020 Sep; 8(9): e1366. Published online 2020 Jun 25. doi: 10.1002/mgg3.1366

PMCID:: PMC7507304

Abstract Article PDF–1011K

Select item 650301110.

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

Mingyuan Wang, Yi Guo, Pengfei Rong, Hongbo Xu, Lina Gong, Hao Deng, Lamei Yuan

Mol Genet Genomic Med. 2019 May; 7(5): e619. Published online 2019 Mar 4. doi: 10.1002/mgg3.619

PMCID:: PMC6503011

Abstract Article PDF–677K

Select item 649944811.

A novel missense mutation in P4HB causes mild osteogenesis imperfecta

Lujiao Li, Dichen Zhao, Wenbin Zheng, Ou Wang, Yan Jiang, Weibo Xia, Xiaoping Xing, Mei Li

Biosci Rep. 2019 Apr 30; 39(4): BSR20182118. Prepublished online 2019 Apr 4. Published online 2019 Apr 30. doi: 10.1042/BSR20182118

PMCID:: PMC6499448

Abstract Article PDF–1.1M

Select item 625074812.

Implant therapy for a patient with osteogenesis imperfecta type I: review of literature with a case report

Shamit S. Prabhu, Kevin Fortier, Michael C. May, Uday N. Reebye

Int J Implant Dent. 2018 Dec; 4: 36. Published online 2018 Nov 23. doi: 10.1186/s40729-018-0148-0

PMCID:: PMC6250748

Abstract Article PDF–5.2M

Select item 609722613.

Sequential traumatic corneal open globe rupture in a patient with osteogenesis imperfecta type I

Giovanni Campagna, Zaina Al-Mohtaseb, Sumitra Khandelwal, Emmanuel Chang

Am J Ophthalmol Case Rep. 2018 Sep; 11: 35–36. Published online 2018 May 6. doi: 10.1016/j.ajoc.2018.05.001

PMCID:: PMC6097226

Abstract Article PDF–365K

Select item 575565514.

Successful Treatment of Rapidly Progressive Life-Threatening Esophageal Submucosal Hematoma in a Patient With van der Hoeve Syndrome

Yasuhiro Watanabe, Naomi Shimizu, Masahiro Iwakawa, Takashi Yamaguchi, Noriko Ban, Hidetoshi Kawana, Atsuhito Saiki, Emiko Sakaida, Chiaki Nakaseko, Yasuhiro Matsuura, Nobuyuki Aotsuka, Hideaki Bujo, Ichiro Tatsuno

J Clin Med Res. 2018 Feb; 10(2): 154–157. Published online 2017 Dec 30. doi: 10.14740/jocmr3270w

PMCID:: PMC5755655

Abstract Article PDF–865K

Select item 572620015.

Efficacy of teriparatide vs neridronate in adults with osteogenesis imperfecta type I: a prospective randomized international clinical study

Paolo Tranquilli Leali, Massimo Balsano, Gianluca Maestretti, Matteo Brusoni, Veronica Amorese, Emanuele Ciurlia, Matteo Andreozzi, Gianfilippo Caggiari, Carlo Doria

Clin Cases Miner Bone Metab. 2017 May-Aug; 14(2): 153–156. Published online 2017 Oct 25. doi: 10.11138/ccmbm/2017.14.1.153

PMCID:: PMC5726200

Abstract Article PDF–105K

Select item 563519116.

Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1

Vito Pavone, Teresa Mattina, Piero Pavone, Raffaele Falsaperla, Gianluca Testa

J Orthop Case Rep. 2017 May-Jun; 7(3): 63–66. doi: 10.13107/jocr.2250-0685.808

PMCID:: PMC5635191

Abstract Article PDF–265K

Select item 544012917.

Isolated olecranon fractures in children affected by osteogenesis imperfecta type I treated with single screw or tension band wiring system: Outcomes and pitfalls in relation to bone mineral density

Pietro Persiani, Filippo M. Ranaldi, Jole Graci, Claudia De Cristo, Anna Zambrano, Patrizia D’Eufemia, Lorena Martini, Ciro Villani

Medicine (Baltimore) 2017 May; 96(20): e6766. Published online 2017 May 19. doi: 10.1097/MD.0000000000006766

PMCID:: PMC5440129

Abstract Article PDF–399K

Select item 532170718.

Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI)

Krzysztof Graff, Malgorzata Syczewska

Eur J Pediatr. 2017; 176(3): 311–316. Published online 2017 Jan 5. doi: 10.1007/s00431-016-2839-y

PMCID:: PMC5321707

Abstract Article PDF–638K

Select item 513372019.

Physical activity in youth with osteogenesis imperfecta type I

A. Pouliot-Laforte, L-N. Veilleux, F. Rauch, M. Lemay

J Musculoskelet Neuronal Interact. 2015 Jun; 15(2): 171–176.

PMCID:: PMC5133720

Abstract Article PDF–138K

Select item 432259520.

Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family

Xianlong Shi, Yanqin Lu, Yanzhou Wang, Yu-ang Zhang, Yuanwei Teng, Wanshui Han, Zhenzhong Han, Tianyou Li, Mei Chen, Junlong Liu, Fengling Fang, Conghui Dou, Xiuzhi Ren, Jinxiang Han

Intractable Rare Dis Res. 2015 Feb; 4(1): 49–53. doi: 10.5582/irdr.2014.01039